Canonical Allele Identifier: CA213755

Gene: GCK

Linked Data

• ClinVar Variation Id: 36197
• ClinVar RCV Id: RCV000029860 ; RCV002287345 ; RCV003313033
• dbSNP Id: rs193922280
• MyVariant Identifiers: chr7:g.44184801del (hg19) ; chr7:g.44145202del (hg38)
• ERepo: CA213755/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145202del , CM000669.2:g.44145202del	GRCh38
NC_000007.13:g.44184801del , CM000669.1:g.44184801del	GRCh37
NC_000007.12:g.44151326del	NCBI36
NG_008847.1:g.49222del
NG_008847.2:g.57969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1330del	ENSP00000379142.4:n.*1330del
ENST00000616242.5:c.*452del	ENSP00000482149.2:n.*452del
ENST00000683378.1:n.558del
ENST00000336642.9:c.366del	ENSP00000338009.5:p.Ser123ValfsTer?
ENST00000345378.7:c.1335del	ENSP00000223366.2:p.Ser446ValfsTer?
ENST00000403799.8:c.1332del MANE Select	ENSP00000384247.3:p.Ser445ValfsTer?
ENST00000671824.1:c.1395del	ENSP00000500264.1:p.Ser466ValfsTer?
ENST00000672743.1:n.344del
ENST00000673284.1:c.1332del	ENSP00000499852.1:p.Ser445ValfsTer19
ENST00000336642.8:c.384del	ENSP00000338009.4:p.Ser129ValfsTer?
ENST00000345378.6:c.1335del	ENSP00000223366.2:p.Ser446ValfsTer?
ENST00000395796.7:c.1329del	ENSP00000379142.3:p.Ser444ValfsTer?
ENST00000403799.7:c.1332del	ENSP00000384247.3:p.Ser445ValfsTer?
ENST00000437084.1:c.1281del	ENSP00000402840.1:p.Ser428ValfsTer?
ENST00000459642.1:n.712del
ENST00000616242.4:c.1329del	ENSP00000482149.1:p.Ser444ValfsTer?
NM_000162.3:c.1332del	NP_000153.1:p.Ser445ValfsTer?
NM_033507.1:c.1335del	NP_277042.1:p.Ser446ValfsTer?
NM_033508.1:c.1329del	NP_277043.1:p.Ser444ValfsTer?
NM_000162.4:c.1332del	NP_000153.1:p.Ser445ValfsTer?
NM_001354800.1:c.1332del	NP_001341729.1:p.Ser445ValfsTer19
NM_001354801.1:c.321del	NP_001341730.1:p.Ser108ValfsTer?
NM_001354802.1:c.192del	NP_001341731.1:p.Ser65ValfsTer19
NM_001354803.1:c.366del	NP_001341732.1:p.Ser123ValfsTer?
NM_033507.2:c.1335del	NP_277042.1:p.Ser446ValfsTer?
NM_033508.2:c.1329del	NP_277043.1:p.Ser444ValfsTer?
XM_024446707.1:c.192del	XP_024302475.1:p.Ser65ValfsTer?
NM_000162.5:c.1332del MANE Select	NP_000153.1:p.Ser445ValfsTer?
NM_033507.3:c.1335del	NP_277042.1:p.Ser446ValfsTer?
NM_033508.3:c.1329del	NP_277043.1:p.Ser444ValfsTer?
NM_001354803.2:c.366del	NP_001341732.1:p.Ser123ValfsTer?